Details of Disease

Disease Name

Classic phenylketonuria

classic PKU

Definition

Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

Disease Hierarchy

DISCU56J: Phenylketonuria

DISLU64N: Classic phenylketonuria

Disease Identifiers

MONDO ID

MONDO_0019259

MESH ID

D010661

UMLS CUI

C0751434

OMIM ID

261600

MedGen ID

199655

Orphanet ID

79254

SNOMED CT ID

7573000

General Information of Disease (ID: DISLU64N)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Verapamil	DMA7PEW	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	TTX4QDJ	Limited	Biomarker	[2]
SLC38A7	TTEARWC	Limited	Biomarker	[3]
PAH	TTGSVH2	Supportive	Autosomal recessive	[4]
SHCBP1	TTZ9WGL	Strong	Biomarker	[5]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A5	DT3HUVD	Limited	Genetic Variation	[6]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMACHC	OTX0TT3W	Limited	Genetic Variation	[6]
OXCT1	OT536PE7	Limited	Genetic Variation	[7]
QDPR	OTSKOIUX	Limited	Biomarker	[8]
PTS	OTTYWQXR	Disputed	Biomarker	[9]
PAH	OT6GT2K8	Supportive	Autosomal recessive	[4]
LRIT1	OTNEQPMZ	Strong	Biomarker	[5]
PELI1	OTMLBCLC	Strong	Altered Expression	[10]
PRDM6	OTKY12D9	Strong	Altered Expression	[10]
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⏷ Show the Full List of 8 DOT(s)

References

1	Verapamil FDA Label
2	Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.Mol Genet Metab. 2005 Dec;86 Suppl 1:S61-6. doi: 10.1016/j.ymgme.2005.07.024. Epub 2005 Sep 13.
3	Cerebral protein synthesis in a genetic mouse model of phenylketonuria.Proc Natl Acad Sci U S A. 2000 Sep 26;97(20):11014-9. doi: 10.1073/pnas.97.20.11014.
4	Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [updated 2017 Jan 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
5	Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.Orphanet J Rare Dis. 2018 Jul 4;13(1):108. doi: 10.1186/s13023-018-0858-7.
6	Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.Front Genet. 2018 Apr 20;9:122. doi: 10.3389/fgene.2018.00122. eCollection 2018.
7	When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1121-1124. doi: 10.1515/jpem-2017-0177.
8	Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.
9	Chromosome-wide assessment of replication timing for human chromosomes 11q and 21q: disease-related genes in timing-switch regions.Hum Mol Genet. 2002 Jan 1;11(1):13-21. doi: 10.1093/hmg/11.1.13.
10	Pegvaliase: First Global Approval.BioDrugs. 2018 Aug;32(4):391-395. doi: 10.1007/s40259-018-0292-3.